Canonical Allele Identifier: PA645408178
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 406532
ClinVar RCV Id: RCV000462305 RCV000765212 RCV001260216 RCV001508758 RCV001848803 RCV002467815 RCV002467814 RCV003401464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Ser1142Cys
CA7534986
NM_025137.4:c.3425C>G